ClinVar Miner

List of variants in gene combination LOC129996517, POLR1C reported by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_203290.4(POLR1C):c.8C>T (p.Ala3Val) rs138184356 0.00190
NM_203290.4(POLR1C):c.37C>T (p.Arg13Cys) rs201754745 0.00021
NM_203290.4(POLR1C):c.65G>A (p.Arg22His) rs149529196 0.00018
NM_203290.4(POLR1C):c.69+5G>A rs376407272 0.00015
NM_203290.4(POLR1C):c.23A>G (p.Glu8Gly) rs569005988 0.00009
NM_203290.4(POLR1C):c.36C>T (p.Ser12=) rs560415561 0.00002
NM_203290.4(POLR1C):c.39C>T (p.Arg13=) rs759764469 0.00001
NM_203290.4(POLR1C):c.68A>G (p.Asn23Ser) rs745593101 0.00001
NM_203290.4(POLR1C):c.32_33delinsTT (p.Arg11Leu)
NM_203290.4(POLR1C):c.33G>A (p.Arg11=)
NM_203290.4(POLR1C):c.60G>C (p.Gly20=)
NM_203290.4(POLR1C):c.69+15C>T rs2482868154
NM_203290.4(POLR1C):c.9T>C (p.Ala3=) rs752713208

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